rs763471771
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs763471771(A;A) |
Make rs763471771(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 40413088 |
Gene | IVD |
is a | snp |
is | mentioned by |
dbSNP | rs763471771 |
dbSNP (classic) | rs763471771 |
ClinGen | rs763471771 |
ebi | rs763471771 |
HLI | rs763471771 |
Exac | rs763471771 |
Gnomad | rs763471771 |
Varsome | rs763471771 |
LitVar | rs763471771 |
Map | rs763471771 |
PheGenI | rs763471771 |
Biobank | rs763471771 |
1000 genomes | rs763471771 |
hgdp | rs763471771 |
ensembl | rs763471771 |
geneview | rs763471771 |
scholar | rs763471771 |
rs763471771 | |
pharmgkb | rs763471771 |
gwascentral | rs763471771 |
openSNP | rs763471771 |
23andMe | rs763471771 |
SNPshot | rs763471771 |
SNPdbe | rs763471771 |
MSV3d | rs763471771 |
GWAS Ctlg | rs763471771 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs763471771(A;A) |
Alt | rs763471771(A;A) |
Reference | Rs763471771(G;G) |
Significance | Pathogenic |
Disease | Isovaleryl-CoA dehydrogenase deficiency |
Variation | info |
Gene | IVD |
CLNDBN | Isovaleryl-CoA dehydrogenase deficiency |
Reversed | 0 |
HGVS | NC_000015.9:g.40705287G>A |
CLNSRC | |
CLNACC | RCV000179846.1, |